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Summary
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OPA1)
DOMINANT OPTIC ATROPHY PLUS SYNDROME DOA+
125250
OMIM = Online Medalian Inheritance of Men
1215
3p29
rare
autosomal dominant
symptoms
ataxia
gait disturbance
hearing defect, deafness
hypertonia, spasticity
myopathy
neuropathy
onset, adolescent
onset, childhood
onset, infancy
ophthalmoplegia
optic atrophy
ptosis (drooping eyelid)
strabismus
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Glaudemans B,et al.Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndromeEur J Hum Genet203263-2702012
Parmar MS,Bhimji SSGitelman SyndromeStatPearls Internet002017